Anophthalmia in the focal dermal hypoplasia syndrome
D. M. Marcus, J. W. Shore and D. M. Albert
David G. Cogan Eye Pathology Laboratory, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston.
We examined an orbital exenteration specimen from an anophthalmic patient
with focal dermal hypoplasia. Eyelid angiofibromas were evident and
immunoperoxidase studies for human papilloma virus were negative. Orbital
tissue contained a ductal cyst, chronic inflammation of the lacrimal duct
and sac, rudimentary conjunctival fornices, lacrimal gland, striated
muscle, and adipose tissue. Microscopic examination revealed a posteriorly
located cystic structure with uveal and lens remnants. Neuroectodermal
structures consistent with retina, optic nerve, or meninges were not
observed, thus representing true anophthalmia. These findings remain as the
only histopathologic description of ocular tissues in patients with focal
dermal hypoplasia.
